ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=)

gnomAD frequency: 0.00171  dbSNP: rs372220018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152140 SCV000200837 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro1962Pro in Exon 16 of TRIOBP: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.2% (6/3446) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
GeneDx RCV001546527 SCV001766059 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001546527 SCV002358217 benign not provided 2023-09-01 criteria provided, single submitter clinical testing

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